MCID: RNG032
MIFTS: 43

Ring Chromosome

Categories: Eye diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome

MalaCards integrated aliases for Ring Chromosome:

Name: Ring Chromosome 59

Characteristics:

Orphanet epidemiological data:

59
ring chromosome
Prevalence: 1-9/100000 (Worldwide);

Classifications:



External Ids:

Orphanet 59 ORPHA363203

Summaries for Ring Chromosome

MalaCards based summary : Ring Chromosome is related to ring chromosome 21 and ring chromosome 4. An important gene associated with Ring Chromosome is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. The drugs Dopamine and Apomorphine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and brain, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Wikipedia : 75 A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring... more...

Related Diseases for Ring Chromosome

Diseases in the Ring Chromosome family:

Ring Chromosome 14 Syndrome Ring Chromosome 1
Ring Chromosome 10 Ring Chromosome 11
Ring Chromosome 12 Ring Chromosome 13
Ring Chromosome 15 Ring Chromosome 16
Ring Chromosome 17 Ring Chromosome 18
Ring Chromosome 19 Ring Chromosome 2
Ring Chromosome 20 Ring Chromosome 21
Ring Chromosome 22 Ring Chromosome 3
Ring Chromosome 4 Ring Chromosome 5
Ring Chromosome 6 Ring Chromosome 7
Ring Chromosome 8 Ring Chromosome 9
Ring Chromosome Y Syndrome

Diseases related to Ring Chromosome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 467)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 21 35.2 KMT2A ETV6
2 ring chromosome 4 34.8 PDGFB COL1A1
3 ring chromosome 15 34.8 NR2F2 IGF1R
4 ring chromosome 1 34.1 TRIM62 HMGA2 HMGA1
5 ring chromosome 7 33.3 TP53 MDM2 CDK4
6 bednar tumor 30.7 PDGFB COL1A1
7 pleomorphic lipoma 30.2 MDM2 HMGA2
8 dermatofibrosarcoma protuberans 30.2 TP53 PDGFB COL1A1
9 well-differentiated liposarcoma 30.1 MDM2 HMGA2 CDK4
10 mesenchymoma 30.0 MDM2 HMGA2
11 sarcoma, synovial 29.5 MDM2 IGF1R HMGA2
12 lipomatosis, multiple 29.4 MDM2 HMGA2 HMGA1 CDK4
13 atypical teratoid rhabdoid tumor 29.3 TP53 IGF1R HMGA2
14 leiomyosarcoma 29.2 TP53 MDM2 CDK4
15 histiocytoma 29.1 TP53 MDM2 EWSR1
16 soft tissue sarcoma 28.9 TP53 MDM2 EWSR1
17 diffuse large b-cell lymphoma 28.7 TP53 MDM2 CDK4
18 malignant mesenchymoma 28.5 TP53 MDM2 EWSR1 ETV6 CDK4
19 liposarcoma 28.4 TP53 MDM2 HMGA2 EWSR1 CDK4
20 glioblastoma multiforme 28.3 TP53 PDGFB MDM2 IGF1R CDK4
21 glioblastoma 28.3 TP53 PDGFB MDM2 IGF1R CDK4
22 sarcoma 28.1 TP53 PDGFB MDM2 EWSR1 CREB3L2 CDK4
23 ewing sarcoma 27.4 TP53 PDGFB MDM2 IGF1R FOXC1 EWSR1
24 ring chromosome 20 12.8
25 ring chromosome 14 syndrome 12.8
26 ring chromosome 9 12.7
27 ring chromosome 18 12.7
28 ring chromosome 13 12.7
29 ring chromosome 22 12.7
30 ring chromosome 2 12.7
31 ring chromosome 16 12.6
32 ring chromosome 8 12.5
33 ring chromosome 10 12.5
34 ring chromosome 19 12.5
35 ring chromosome 17 12.5
36 ring chromosome 11 12.5
37 ring chromosome 12 12.5
38 ring chromosome 6 12.4
39 ring chromosome 3 12.4
40 ring chromosome 5 12.4
41 ring chromosome y syndrome 12.3
42 insulin-like growth factor i 11.6
43 phelan-mcdermid syndrome 11.4
44 miller-dieker lissencephaly syndrome 11.4
45 vater/vacterl association 11.3
46 microcephaly 10.6
47 adult fibrosarcoma 10.5 PDGFB ETV6 COL1A1
48 dermis tumor 10.4 PDGFB COL1A1
49 chromosomal triplication 10.4
50 pediatric fibrosarcoma 10.4 EWSR1 ETV6

Graphical network of the top 20 diseases related to Ring Chromosome:



Diseases related to Ring Chromosome

Symptoms & Phenotypes for Ring Chromosome

GenomeRNAi Phenotypes related to Ring Chromosome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.28 IGF1R PDGFB
2 Decreased substrate adherent cell growth GR00193-A-2 9.28 CDK4 PDGFB
3 Decreased substrate adherent cell growth GR00193-A-3 9.28 CDK4 PDGFB
4 Decreased substrate adherent cell growth GR00193-A-4 9.28 CDK4 IGF1R PDGFB

MGI Mouse Phenotypes related to Ring Chromosome:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 CDK4 COL1A1 CREB3L2 CTSA ETV6 FOXC1
2 cardiovascular system MP:0005385 10.34 CDK4 COL1A1 CTSA ETV6 FOXC1 IGF1R
3 homeostasis/metabolism MP:0005376 10.33 CDK4 COL1A1 CTSA ETV6 FOXC1 IGF1R
4 mortality/aging MP:0010768 10.32 CDK4 COL1A1 CREB3L2 CTSA ETV6 FOXC1
5 integument MP:0010771 10.3 CDK4 COL1A1 CTSA ETV6 FOXC1 IGF1R
6 embryo MP:0005380 10.27 CDK4 COL1A1 ETV6 FOXC1 IGF1R KMT2A
7 digestive/alimentary MP:0005381 10.24 CDK4 COL1A1 CREB3L2 ETV6 FOXC1 IGF1R
8 immune system MP:0005387 10.24 CDK4 COL1A1 CTSA ETV6 IGF1R KMT2A
9 endocrine/exocrine gland MP:0005379 10.22 CDK4 COL1A1 ETV6 FOXC1 IGF1R MDM2
10 craniofacial MP:0005382 10.19 COL1A1 CREB3L2 CTSA FOXC1 IGF1R KMT2A
11 liver/biliary system MP:0005370 10.19 CDK4 COL1A1 CTSA FOXC1 IGF1R KMT2A
12 limbs/digits/tail MP:0005371 10.11 COL1A1 CREB3L2 FOXC1 IGF1R KMT2A MDM2
13 muscle MP:0005369 10.11 CDK4 COL1A1 FOXC1 IGF1R KMT2A MDM2
14 nervous system MP:0003631 10.1 CDK4 COL1A1 FOXC1 IGF1R KMT2A MDM2
15 neoplasm MP:0002006 10.03 CDK4 COL1A1 ETV6 IGF1R KMT2A MDM2
16 no phenotypic analysis MP:0003012 9.97 COL1A1 ETV6 KMT2A MDM2 NR2F2 PDGFB
17 pigmentation MP:0001186 9.87 CDK4 COL1A1 FOXC1 MDM2 NR2F2 PDGFB
18 renal/urinary system MP:0005367 9.86 CDK4 COL1A1 CTSA FOXC1 KMT2A MDM2
19 reproductive system MP:0005389 9.85 CDK4 COL1A1 CTSA FOXC1 IGF1R KMT2A
20 respiratory system MP:0005388 9.5 COL1A1 CTSA FOXC1 IGF1R PDGFB TP53
21 vision/eye MP:0005391 9.17 CDK4 COL1A1 FOXC1 NR2F2 PDGFB SHANK3

Drugs & Therapeutics for Ring Chromosome

Drugs for Ring Chromosome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Apomorphine Approved, Investigational 41372-20-7, 58-00-4 6005
3 Sympathomimetics
4 Neurotransmitter Agents
5 Cardiotonic Agents
6 Gastrointestinal Agents
7 Dopamine Agents
8 Peripheral Nervous System Agents
9 Dopamine agonists
10 Protective Agents
11 Autonomic Agents
12 Emetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dopaminergic Reactivity In Idiopathic Generalized Epilepsy: A "Proof Of Concept" Clinical, Pharmacological And Neurophysiological Study Completed NCT01432821

Search NIH Clinical Center for Ring Chromosome

Genetic Tests for Ring Chromosome

Anatomical Context for Ring Chromosome

MalaCards organs/tissues related to Ring Chromosome:

41
Myeloid, Bone, Brain, Skin, Heart, Breast, T Cells

Publications for Ring Chromosome

Articles related to Ring Chromosome:

(show top 50) (show all 1198)
# Title Authors PMID Year
1
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies. 38
31210441 2019
2
[Alopecia, deformed ear and mental retardation associated with terminal 21q deletion]. 38
30922549 2019
3
[Kleefstra syndrome 1 and ring chromosome 9 in a case]. 38
31400141 2019
4
Small Supernumerary Ring Chromosome Derived from an Inverted Duplication of 13q11.2q14 in a Fetus with Coarctation of the Aorta. 38
31315112 2019
5
Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages. 38
31195399 2019
6
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood. 38
30991358 2019
7
Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples. 38
30632238 2019
8
Cromosoma 13 en anillo. 38
30907385 2019
9
Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of RUNX1: Cytogenetic and Molecular Characterization. 38
30800047 2019
10
MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism. 38
30647996 2019
11
A Case of Thumb Polydactyly which Ulnar Thumb Has No Active Motion in Ring Chromosome 4. 38
30428788 2018
12
[Genetic analysis of a patient with premature ovarian failure and a 45,XX,-13/46,XX,r(13)(p13q34)/46,XX,r(13;13) karyotype]. 38
30512167 2018
13
A rare case of hepatosplenic γδ T-cell lymphoma expressing CD19 with ring chromosome 7 and trisomy 8. 38
30553467 2018
14
Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13. 38
30500678 2018
15
CRISPR-C: circularization of genes and chromosome by CRISPR in human cells. 38
30551175 2018
16
Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified. 38
30455928 2018
17
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature. 38
30442194 2018
18
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. 38
30419018 2018
19
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature. 38
30305128 2018
20
A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature. 38
30385235 2018
21
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes. 38
30225942 2018
22
A new perspective to aberrations caused by barium and vanadium ions on Lens culinaris Medik. 38
29783108 2018
23
In vivo genotoxicity assessment of sunset yellow and sodium benzoate in female rats. 38
30208729 2018
24
Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22. 38
30144655 2018
25
Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report. 38
28832804 2018
26
[Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case]. 38
29972124 2018
27
Cutis tricolor parvimaculata in ring chromosome 15 syndrome: A case report. 38
29658137 2018
28
Combined Immunodeficiency with Ring Chromosome 21. 38
29656336 2018
29
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome). 38
29378768 2018
30
Specificity of electroclinical features in the diagnosis of ring chromosome 20. 38
29414555 2018
31
"Double-hit" chronic lymphocytic leukemia: An aggressive subgroup with 17p deletion and 8q24 gain. 38
29194741 2018
32
Gene Duplication and Aneuploidy Trigger Rapid Evolution of Herbicide Resistance in Common Waterhemp. 38
29295942 2018
33
Ring chromosomes: from formation to clinical potential. 38
28894962 2018
34
Otologic disorders in Turner syndrome. 38
28941966 2018
35
Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene. 38
29226546 2018
36
The normality of sperm in an infertile man with ring chromosome 15: a case report. 38
29063501 2018
37
Fecundity in an infertile man with r(15) - a challenge to the current paradigm. 38
29223476 2018
38
"Lipoblastoma" has a nice ring to it. 38
29897891 2018
39
Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review. 38
29656294 2018
40
Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature. 38
29760778 2018
41
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22. 38
29736186 2018
42
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. 38
29492108 2018
43
Rapid and Efficient CRISPR/Cas9-Based Mating-Type Switching of Saccharomyces cerevisiae. 38
29150593 2018
44
Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy. 38
29456482 2017
45
RUNX1 amplification in AML with myelodysplasia-related changes and ring 21 chromosomes. 38
26947932 2017
46
Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. 38
29080333 2017
47
Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Case. 38
29237938 2017
48
The Turner syndrome life course project: Karyotype-phenotype analyses across the lifespan. 38
28617979 2017
49
Ring chromosome in myeloid neoplasms is associated with complex karyotype and disease progression. 38
28842184 2017
50
Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function. 38
28899882 2017

Variations for Ring Chromosome

Expression for Ring Chromosome

Search GEO for disease gene expression data for Ring Chromosome.

Pathways for Ring Chromosome

Pathways related to Ring Chromosome according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 TP53 PDGFB MDM2 IGF1R CREB3L2 COL1A1
2 12.66 TP53 PDGFB MDM2 IGF1R CDK4
3
Show member pathways
12.63 TP53 PDGFB MDM2 IGF1R CREB3L2 CDK4
4
Show member pathways
12.5 TP53 PDGFB MDM2 IGF1R CDK4
5 12.38 TP53 PDGFB MDM2 HMGA2
6 12.27 KMT2A HMGA2 HMGA1 EWSR1
7 12.1 TP53 MDM2 CREB3L2 CDK4
8
Show member pathways
11.95 TP53 MDM2 IGF1R CREB3L2 CDK4
9 11.81 TP53 MDM2 IGF1R CREB3L2 CDK4
10 11.69 TP53 MDM2 CDK4
11 11.63 TP53 HMGA1 CDK4
12 11.6 TP53 PDGFB MDM2 IGF1R CDK4
13 11.56 TP53 MDM2 CDK4
14 11.46 TP53 MDM2 KMT2A IGF1R HMGA1 COL1A1
15 11.44 TP53 MDM2 KMT2A IGF1R HMGA2 EWSR1
16 11.32 TP53 MDM2 CDK4
17 11.28 TP53 MDM2 CDK4
18 11.11 TP53 MDM2 CDK4
19 10.72 PDGFB COL1A1

GO Terms for Ring Chromosome

Cellular components related to Ring Chromosome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.65 TP53 NR2F2 MDM2 KMT2A HMGA2 HMGA1
2 chromatin GO:0000785 9.33 HMGA2 CREB3L2 CDK4
3 senescence-associated heterochromatin focus GO:0035985 8.62 HMGA2 HMGA1

Biological processes related to Ring Chromosome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.88 TP53 PDGFB NR2F2 MDM2 HMGA2 HMGA1
2 regulation of transcription, DNA-templated GO:0006355 9.81 TP53 NR2F2 KMT2A HMGA2 HMGA1 FOXC1
3 positive regulation of gene expression GO:0010628 9.73 TP53 PDGFB MDM2 HMGA2 FOXC1 CREB3L2
4 blood vessel development GO:0001568 9.69 MDM2 FOXC1 COL1A1
5 protein-containing complex assembly GO:0065003 9.67 TP53 MDM2 KMT2A HMGA1
6 base-excision repair GO:0006284 9.65 TP53 HMGA2 HMGA1
7 positive regulation of protein export from nucleus GO:0046827 9.58 TP53 MDM2
8 positive regulation of cellular senescence GO:2000774 9.57 HMGA2 HMGA1
9 response to hyperoxia GO:0055093 9.56 COL1A1 CDK4
10 lymph vessel development GO:0001945 9.55 NR2F2 FOXC1
11 mesenchymal cell differentiation GO:0048762 9.54 HMGA2 FOXC1
12 senescence-associated heterochromatin focus assembly GO:0035986 9.46 HMGA2 HMGA1
13 cellular response to actinomycin D GO:0072717 9.43 TP53 MDM2
14 oncogene-induced cell senescence GO:0090402 9.32 HMGA2 HMGA1
15 positive regulation of transcription, DNA-templated GO:0045893 9.28 TP53 PDGFB NR2F2 KMT2A HMGA2 HMGA1
16 transcription by RNA polymerase II GO:0006366 8.65 KMT2A
17 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 TP53 KMT2A HMGA2 HMGA1 FOXC1 ETV6
18 negative regulation of transcription by RNA polymerase II GO:0000122 10 TP53 NR2F2 MDM2 HMGA2 FOXC1 ETV6

Molecular functions related to Ring Chromosome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.85 TP53 NR2F2 KMT2A FOXC1 ETV6 CREB3L2
2 transcription factor binding GO:0008134 9.83 TP53 HMGA2 HMGA1 FOXC1
3 zinc ion binding GO:0008270 9.8 TRIM62 TP53 SHANK3 NR2F2 MDM2 KMT2A
4 identical protein binding GO:0042802 9.8 TP53 PDGFB MDM2 KMT2A IGF1R EWSR1
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.76 TP53 NR2F2 KMT2A HMGA2 HMGA1 FOXC1
6 DNA binding, bending GO:0008301 9.49 HMGA2 FOXC1
7 cAMP response element binding GO:0035497 9.48 HMGA2 CREB3L2
8 platelet-derived growth factor binding GO:0048407 9.46 PDGFB COL1A1
9 peroxisome proliferator activated receptor binding GO:0042975 9.43 MDM2 HMGA1
10 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 9.4 HMGA2 HMGA1
11 transcription regulatory region DNA binding GO:0044212 9.35 TP53 KMT2A HMGA2 FOXC1 CREB3L2
12 AT DNA binding GO:0003680 8.8 KMT2A HMGA2 HMGA1
13 DNA binding GO:0003677 10.11 TP53 NR2F2 KMT2A HMGA2 HMGA1 FOXC1

Sources for Ring Chromosome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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